{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351986836",
  "communityStandardTitle": [
    "NM_000404.4(GLB1):c.1498A>T (p.Thr500Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2111961[alleleid]",
        "alleleId": 2111961,
        "preferredName": "NM_000404.4(GLB1):c.1498A>T (p.Thr500Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2052783",
        "RCV": [
          "RCV002937708"
        ],
        "variationId": 2052783
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.33055784T>A?assembly=hg19",
        "id": "chr3:g.33055784T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.33014292T>A?assembly=hg38",
        "id": "chr3:g.33014292T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72555368",
        "rs": 72555368
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 33014292,
          "referenceAllele": "T",
          "start": 33014291
        }
      ],
      "hgvs": [
        "NC_000003.12:g.33014292T>A",
        "CM000665.2:g.33014292T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 33055784,
          "referenceAllele": "T",
          "start": 33055783
        }
      ],
      "hgvs": [
        "NC_000003.11:g.33055784T>A",
        "CM000665.1:g.33055784T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 33030788,
          "referenceAllele": "T",
          "start": 33030787
        }
      ],
      "hgvs": [
        "NC_000003.10:g.33030788T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 87911,
          "referenceAllele": "A",
          "start": 87910
        }
      ],
      "hgvs": [
        "NG_009005.1:g.87911A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001373"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1559,
          "referenceAllele": "A",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307363.10:c.1498A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306920.4:p.Thr500Ser",
        "hgvsWellDefined": "ENSP00000306920.4:p.Thr500Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307363.10:c.1498A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000404.4:c.1498A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306920.4:p.Thr500Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000395.3:p.Thr500Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1643,
          "referenceAllele": "A",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307363.9:c.1498A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306920.4:p.Thr500Ser",
        "hgvsWellDefined": "ENSP00000306920.4:p.Thr500Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1166,
          "referenceAllele": "A",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307377.12:c.1105A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305920.8:p.Thr369Ser",
        "hgvsWellDefined": "ENSP00000305920.8:p.Thr369Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "A",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000399402.7:c.1408A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382333.2:p.Thr470Ser",
        "hgvsWellDefined": "ENSP00000382333.2:p.Thr470Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278664"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 597,
          "referenceAllele": "A",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000461475.5:n.597A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305976"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "referenceAllele": "A",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000497796.5:n.750A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333946"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1615,
          "referenceAllele": "A",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.2:c.1498A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.2:p.Thr500Ser",
        "hgvsWellDefined": "NP_000395.2:p.Thr500Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006465"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1643,
          "referenceAllele": "A",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.3:c.1498A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.2:p.Thr500Ser",
        "hgvsWellDefined": "NP_000395.2:p.Thr500Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1527,
          "referenceAllele": "A",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.1:c.1408A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.1:p.Thr470Ser",
        "hgvsWellDefined": "NP_001073279.1:p.Thr470Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1537,
          "referenceAllele": "A",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.2:c.1408A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.1:p.Thr470Ser",
        "hgvsWellDefined": "NP_001073279.1:p.Thr470Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1222,
          "referenceAllele": "A",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.1:c.1105A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.1:p.Thr369Ser",
        "hgvsWellDefined": "NP_001129074.1:p.Thr369Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1250,
          "referenceAllele": "A",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.2:c.1105A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.1:p.Thr369Ser",
        "hgvsWellDefined": "NP_001129074.1:p.Thr369Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1787,
          "referenceAllele": "A",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001317040.1:c.1642A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303969.1:p.Thr548Ser",
        "hgvsWellDefined": "NP_001303969.1:p.Thr548Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825162861",
      "coordinates": [
        {
          "allele": "T",
          "end": 1559,
          "referenceAllele": "A",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.4:c.1498A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.3:p.Thr500Ser",
        "hgvsWellDefined": "NP_000395.3:p.Thr500Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662429",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307363.10:c.1498A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000404.4:c.1498A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306920.4:p.Thr500Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000395.3:p.Thr500Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825445258",
      "coordinates": [
        {
          "allele": "T",
          "end": 1527,
          "referenceAllele": "A",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.3:c.1408A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.2:p.Thr470Ser",
        "hgvsWellDefined": "NP_001073279.2:p.Thr470Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711783"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825794537",
      "coordinates": [
        {
          "allele": "T",
          "end": 1166,
          "referenceAllele": "A",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.3:c.1105A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.2:p.Thr369Ser",
        "hgvsWellDefined": "NP_001129074.2:p.Thr369Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712445"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580197935",
      "coordinates": [
        {
          "allele": "T",
          "end": 1703,
          "referenceAllele": "A",
          "start": 1702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001317040.2:c.1642A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303969.2:p.Thr548Ser",
        "hgvsWellDefined": "NP_001303969.2:p.Thr548Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717394"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829206153",
      "coordinates": [
        {
          "allele": "T",
          "end": 1559,
          "referenceAllele": "A",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001393580.1:c.1498A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001380509.1:p.Thr500Ser",
        "hgvsWellDefined": "NP_001380509.1:p.Thr500Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726736"
    }
  ],
  "type": "nucleotide"
}